D114G (p.Asp114Gly) variant of PPARGC1A (Q9UBK2)
D114G (p.Asp114Gly) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D114G (p.Asp114Gly) variant details
- p.Asp114Gly
- 1000Genomes rs200320648
- ExAC rs200320648
- TOPMed rs200320648
- gnomAD rs200320648
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.34
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.10
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available